| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
CA | 0.700 | GeneticVariation | CLINVAR | Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. | 16549640 | 2006 |
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|
CA | 0.700 | GeneticVariation | CLINVAR | Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. | 15489853 | 2004 |
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|
CA | 0.700 | GeneticVariation | CLINVAR | Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations. | 22781308 | 2012 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Polymerase gamma 1 mutations: clinical correlations. | 20220442 | 2010 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Clinical and molecular features of POLG-related mitochondrial disease. | 23545419 | 2013 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Understanding the Epilepsy in POLG Related Disease. | 28837072 | 2017 |
|||
|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CCCCACCA | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. | 26789910 | 2016 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Disruptive CHD8 mutations define a subtype of autism early in development. | 24998929 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. | 23160955 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. | 22495309 | 2012 |
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|
TG | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |